[MIM 609 528]

Acronym for CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma

Prevalence < 1/1.106. Reported in some families in Saudi Arabia. Autosomal recessive transmission of a mutation of the SNAP29 gene (22q11.2) coding for a SNARE protein involved in the fusion of the membrane of vesicles involved in the intracellular recycling of some proteins.

Association of:

-        cerebral dysgenesis: microcephaly, ataxia, hypotonia, corpus callosum abnormalities, micropolygyria, pachygyria

-        peripheral neuropathy, dysphagia of neurologic origin

-        hypoplasia of the optic nerves

-        ichthyosis (dry skin that peels off in large patches) and diffuse palmoplantar keratodermia (thick skin) that appear between 5 and 10 months of age.

-        elongated facies, downslanting palpebral fissures, hypertelorism, low set ears

Death usual between 5 and 10 years of age, following infection or repeated aspirations.

Anesthetic implications: 

polyhandicapped child

References : 

-         Hsu T, Coughlin CC, Monaghan KG, Fiala E et al.
CEDNICK: phenotypic and molecular charaterisation of an additional patient and review of the literature.
Child Neurology Open 2017; 4:1-6

-        Poojary S, Shah KS, Bhalala KB, Hedge AU. 
CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene.
Pediatr Dermatol 2019; 36: 372-6

Updated: December 2019